WNT10A, Dermatology and Dentistry

The document is a review article that discusses the importance of WNT10A, a protein involved in the development of skin, hair, teeth, and other ectodermal structures. It explains that mutations in the WNT10A gene are linked to various ectodermal dysplasias (EDs) and non-syndromic tooth agenesis (NSTA), with the most common mutations being p.Cys107* and p.Phe228Ile. The review also covers the clinical impact of WNT10A mutations beyond dermatology and dentistry, including their role in kidney fibrosis, cancer, and neuropathic pain. It is based on an analysis of 287 articles and identifies 83 novel bi-allelic WNT10A mutation cases. The review suggests that heterozygous WNT10A mutations can cause clinical phenotypes and that about 50% of carriers show clinical abnormalities, with a sex-bias in manifestation. It emphasizes the need for comprehensive gene panel analysis for accurate diagnosis and discusses the potential for WNT10A-targeted therapies in regenerative medicine, despite the current lack of specific inhibitors or modifiers.